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Genetic and Epigenetic Control of Disease Occurrence

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A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (31 October 2023) | Viewed by 6210

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Special Issue Editor

Dr. Valentina Gatta

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Guest Editor

1. Department of Psychological, Health and Territorial Sciences, University of Chieti-Pescara, 66100 Chieti, Italy
2. Center for Advanced Studies and Technology-CAST, University of Chieti-Pescara, 66100 Chieti, Italy
Interests: gene expression profiles; epigenetics; reproduction; medical genetics; gene mutations; gene–environment interactions in human health

Special Issue Information

Dear Colleagues,

The genetic background is an important contributor to susceptibility to human disease. Deciphering the genetic and molecular basis of human traits and disease is a primary problem in biology and personalized medicine. However, an increasing subclass of disease-causing mutations includes changes in the epigenome or in the amount and activity of proteins that can regulate the chromatin structure. Without changing the genomic sequence, epigenetic modifications, in response to a specific environment, could cause genomic susceptibilities, impacting the later development of human diseases. This Special Issue on “Genetic and Epigenetic Control of Disease Occurrence” aims to highlight recent advances in the field of genomics and transcriptomics towards the translation of genotype to phenotype and the development of analytical methods to understand how the environment and genetics interact to impact health through epigenetics mechanisms. I would like to invite authors to contribute to the collection of manuscripts and review articles on recent advances regarding the molecular basis of human disease. Reports pertaining to potentially damaging isolated variants without strong arguments implicating them as causal defects will be given low priority.

Dr. Valentina Gatta
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

genetics
epigenetics
molecular basis
personalized medicine
complex traits
transgenerational inheritance
mendelian inheritance

Published Papers (3 papers)

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Research

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9 pages, 542 KiB

Open AccessArticle

Association between Downstream Taste Signaling Genes, Oral Microbiome, and Severe Early Childhood Caries

by Vivianne Cruz de Jesus, Betty-Anne Mittermuller, Pingzhao Hu, Robert J. Schroth and Prashen Chelikani

Int. J. Mol. Sci. 2023, 24(1), 81; https://doi.org/10.3390/ijms24010081 - 21 Dec 2022

Viewed by 1309

Abstract

Polymorphisms in taste receptor genes have been shown to play a role in early childhood caries (ECC), a multifactorial, biofilm-mediated disease. This study aimed to evaluate associations between severe-ECC (S-ECC), the oral microbiome, and variants in genes that encode components of the G protein-coupled receptor (GPCR) signaling cascade involved in taste sensation. A total of 176 children (88 caries-free; 88 with S-ECC) were recruited. Analyses of 16S and ITS1 rRNA microbial genes and seven (GNAQ, GNAS, GNAT3, GNAI2, RAC1, RALB, and PLCB2) human genes were pursued using next-generation sequencing. Regression analyses were performed to evaluate associations between genetic variants, S-ECC, and the supragingival plaque microbiome. Results suggest that PLCB2 rs2305645 (T), rs1869901 (G), and rs2305649 (G) alleles had a protective effect on S-ECC (rs2305645, odds ratio (OR) = 0.27 (95% confidence interval (CI): 0.14–0.51); rs1869901, OR = 0.34 (95% CI: 0.20–0.58); and rs2305649, OR = 0.43 (95% CI: 0.26–0.71)). Variants in GNAQ, GNAS, GNAT3, PLCB2, RALB, and RAC1 were associated with oral fungal and bacterial community composition. This study revealed that three loci at PLCB2 are significantly associated with S-ECC. Variants in multiple genes were associated with the composition of dental biofilm. These findings contribute to the current knowledge about the role of genetics in S-ECC. Full article

(This article belongs to the Special Issue Genetic and Epigenetic Control of Disease Occurrence)

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20 pages, 4120 KiB

Open AccessArticle

Gene Expression and DNA Methylation in Human Papillomavirus Positive and Negative Head and Neck Squamous Cell Carcinomas

by Snežana Hinić, April Rich, Nicole V. Anayannis, Stephanie Cabarcas-Petroski, Laura Schramm and Patricio I. Meneses

Int. J. Mol. Sci. 2022, 23(18), 10967; https://doi.org/10.3390/ijms231810967 - 19 Sep 2022

Cited by 4 | Viewed by 1949

Abstract

High-risk human papillomaviruses (HPV) are important agents, responsible for a large percentage of the 745,000 cases of head and neck squamous cell carcinomas (HNSCC), which were identified worldwide in 2020. In addition to being virally induced, tobacco and heavy alcohol consumption are believed to cause DNA damage contributing to the high number of HNSCC cases. Gene expression and DNA methylation differ between HNSCC based on HPV status. We used publicly available gene expression and DNA methylation profiles from the Cancer Genome Atlas and compared HPV positive and HPV negative HNSCC groups. We used differential gene expression analysis, differential methylation analysis, and a combination of these two analyses to identify the differences. Differential expression analysis identified 1854 differentially expressed genes, including PCNA, TNFRSF14, TRAF1, TRAF2, BCL2, and BIRC3. SYCP2 was identified as one of the top deregulated genes in the differential methylation analysis and in the combined differential expression and methylation analyses. Additionally, pathway and ontology analyses identified the extracellular matrix and receptor interaction pathway as the most altered between HPV negative and HPV positive HNSCC groups. Combining gene expression and DNA methylation can help in elucidating the genes involved in HPV positive HNSCC tumorigenesis, such as SYCP2 and TAF7L. Full article

(This article belongs to the Special Issue Genetic and Epigenetic Control of Disease Occurrence)

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Review

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32 pages, 1763 KiB

Open AccessReview

The Epigenetics of Migraine

by Farzin Zobdeh, Ivan I. Eremenko, Mikail A. Akan, Vadim V. Tarasov, Vladimir N. Chubarev, Helgi B. Schiöth and Jessica Mwinyi

Int. J. Mol. Sci. 2023, 24(11), 9127; https://doi.org/10.3390/ijms24119127 - 23 May 2023

Cited by 4 | Viewed by 2395

Abstract

Migraine is a complex neurological disorder and a major cause of disability. A wide range of different drug classes such as triptans, antidepressants, anticonvulsants, analgesics, and beta-blockers are used in acute and preventive migraine therapy. Despite a considerable progress in the development of novel and targeted therapeutic interventions during recent years, e.g., drugs that inhibit the calcitonin gene-related peptide (CGRP) pathway, therapy success rates are still unsatisfactory. The diversity of drug classes used in migraine therapy partly reflects the limited perception of migraine pathophysiology. Genetics seems to explain only to a minor extent the susceptibility and pathophysiological aspects of migraine. While the role of genetics in migraine has been extensively studied in the past, the interest in studying the role of gene regulatory mechanisms in migraine pathophysiology is recently evolving. A better understanding of the causes and consequences of migraine-associated epigenetic changes could help to better understand migraine risk, pathogenesis, development, course, diagnosis, and prognosis. Additionally, it could be a promising avenue to discover new therapeutic targets for migraine treatment and monitoring. In this review, we summarize the state of the art regarding epigenetic findings in relation to migraine pathogenesis and potential therapeutic targets, with a focus on DNA methylation, histone acetylation, and microRNA-dependent regulation. Several genes and their methylation patterns such as CALCA (migraine symptoms and age of migraine onset), RAMP1, NPTX2, and SH2D5 (migraine chronification) and microRNA molecules such as miR-34a-5p and miR-382-5p (treatment response) seem especially worthy of further study regarding their role in migraine pathogenesis, course, and therapy. Additionally, changes in genes including COMT, GIT2, ZNF234, and SOCS1 have been linked to migraine progression to medication overuse headache (MOH), and several microRNA molecules such as let-7a-5p, let-7b-5p, let-7f-5p, miR-155, miR-126, let-7g, hsa-miR-34a-5p, hsa-miR-375, miR-181a, let-7b, miR-22, and miR-155-5p have been implicated with migraine pathophysiology. Epigenetic changes could be a potential tool for a better understanding of migraine pathophysiology and the identification of new therapeutic possibilities. However, further studies with larger sample sizes are needed to verify these early findings and to be able to establish epigenetic targets as disease predictors or therapeutic targets. Full article

(This article belongs to the Special Issue Genetic and Epigenetic Control of Disease Occurrence)

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